Solène Doppler, Benjamin Durand, Corentin Schwarz, Marie-Thérèse Abi Warde, Pascale Saugier-Veber, Francois Lecoquierre, Roseline Froissart, Audrey Schalk, Sophie Scheidecker, Sarah Baer
{"title":"Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review.","authors":"Solène Doppler, Benjamin Durand, Corentin Schwarz, Marie-Thérèse Abi Warde, Pascale Saugier-Veber, Francois Lecoquierre, Roseline Froissart, Audrey Schalk, Sophie Scheidecker, Sarah Baer","doi":"10.1136/jmg-2026-111582","DOIUrl":"https://doi.org/10.1136/jmg-2026-111582","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jhih-Rong Lin, Daniella Miller, Dana Luong, Tanner Nelson, T B Crowley, Oanh T Tran, Bhooma Thiruvahindrapuram, Amirhossein Hajianpour, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Sixto García-Miñaúr, Luis Fernández, Kieran C Murphy, Declan G Murphy, Wanda Hawula, Kathleen Angkustsiri, Vandana Shashi, Kelly Schoch, Carrie E Bearden, Aoy Tomita-Mitchell, Michael Mitchell, Miri Carmel, Abraham Weizman, Elena Michaelovsky, Doron Gothelf, Marianne van den Bree, Michael Owen, Jacob Vorstman, Erik Boot, Claudia Vingerhoets, Therese Van Amelsvoort, Ann Swillen, Jeroen Breckpot, Joris R Vermeesch, Koenraad Devriendt, Maude Schneider, Stephan Eliez, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Paolo Versacci, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Gabriela M Repetto, Wendy Kates, Robert J Shprintzen, Raquel E Gur, Elaine Zackai, Elizabeth Goldmuntz, Tao Wang, Srilakshmi Raj, Beverly S Emanuel, Donna M McDonald-McGinn, Stephen W Scherer, Anne S Bassett, Zhengdong D Zhang, Bernice E Morrow
{"title":"Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome.","authors":"Jhih-Rong Lin, Daniella Miller, Dana Luong, Tanner Nelson, T B Crowley, Oanh T Tran, Bhooma Thiruvahindrapuram, Amirhossein Hajianpour, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Sixto García-Miñaúr, Luis Fernández, Kieran C Murphy, Declan G Murphy, Wanda Hawula, Kathleen Angkustsiri, Vandana Shashi, Kelly Schoch, Carrie E Bearden, Aoy Tomita-Mitchell, Michael Mitchell, Miri Carmel, Abraham Weizman, Elena Michaelovsky, Doron Gothelf, Marianne van den Bree, Michael Owen, Jacob Vorstman, Erik Boot, Claudia Vingerhoets, Therese Van Amelsvoort, Ann Swillen, Jeroen Breckpot, Joris R Vermeesch, Koenraad Devriendt, Maude Schneider, Stephan Eliez, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Paolo Versacci, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Gabriela M Repetto, Wendy Kates, Robert J Shprintzen, Raquel E Gur, Elaine Zackai, Elizabeth Goldmuntz, Tao Wang, Srilakshmi Raj, Beverly S Emanuel, Donna M McDonald-McGinn, Stephen W Scherer, Anne S Bassett, Zhengdong D Zhang, Bernice E Morrow","doi":"10.1136/jmg-2026-111761","DOIUrl":"https://doi.org/10.1136/jmg-2026-111761","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Terri Patricia McVeigh, Helen Hanson, Katie Snape, Clare Turnbull, George J Burghel
{"title":"Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practice.","authors":"Terri Patricia McVeigh, Helen Hanson, Katie Snape, Clare Turnbull, George J Burghel","doi":"10.1136/jmg-2026-111648","DOIUrl":"https://doi.org/10.1136/jmg-2026-111648","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Terri Patricia McVeigh, Ruth Armstrong, John Burn, Richard Gallon, Helen Hanson, Fiona Lalloo, Andrew Latchford, Katie Snape, Nick West, Kevin J Monahan
{"title":"UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers.","authors":"Terri Patricia McVeigh, Ruth Armstrong, John Burn, Richard Gallon, Helen Hanson, Fiona Lalloo, Andrew Latchford, Katie Snape, Nick West, Kevin J Monahan","doi":"10.1136/jmg-2026-111623","DOIUrl":"https://doi.org/10.1136/jmg-2026-111623","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149182456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karin Sollander, Anna Hammarsjö, Andrés Metz Erlendsson, Nader Ghaffarpour, Maria Karlsson, Annie Pedersen, Ove Thott, Sofia Frisk
{"title":"Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation.","authors":"Karin Sollander, Anna Hammarsjö, Andrés Metz Erlendsson, Nader Ghaffarpour, Maria Karlsson, Annie Pedersen, Ove Thott, Sofia Frisk","doi":"10.1136/jmg-2026-111671","DOIUrl":"https://doi.org/10.1136/jmg-2026-111671","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149166606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shaimaa Helal, Enas Nasr, Rafael Pacheco, Bushra Haque, Constance O'connor, Sarah Schwartz, Nicole Liang, Courtney Ells, Lesley Turner, Anne Ronan, Roberto Mendoza-Londono
{"title":"Recurrent helical <i>COL1A1</i> E678K variant in three families with an EDS-predominant phenotype expanding the clinical and molecular spectrum of COL1-related overlap disorder.","authors":"Shaimaa Helal, Enas Nasr, Rafael Pacheco, Bushra Haque, Constance O'connor, Sarah Schwartz, Nicole Liang, Courtney Ells, Lesley Turner, Anne Ronan, Roberto Mendoza-Londono","doi":"10.1136/jmg-2026-111532","DOIUrl":"https://doi.org/10.1136/jmg-2026-111532","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aanum Aanum, Antonio Pereira, Bailey Andrew, Catherine Ramsden, Elizabeth Sollars, Joseph M Shaw, Robert D Morgan, George J Burghel
{"title":"Somatic panel testing reveals no common alternative oncogenic driver in <i>BRCA1/2</i>-mutant high-grade serous ovarian cancer with discordant low genomic instability score.","authors":"Aanum Aanum, Antonio Pereira, Bailey Andrew, Catherine Ramsden, Elizabeth Sollars, Joseph M Shaw, Robert D Morgan, George J Burghel","doi":"10.1136/jmg-2026-111819","DOIUrl":"https://doi.org/10.1136/jmg-2026-111819","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Alternative causative variants explain phenotypic severity in historical reports of <i>NF2</i> missense variant carriers.","authors":"Miriam J Smith, D Gareth Evans","doi":"10.1136/jmg-2026-111894","DOIUrl":"https://doi.org/10.1136/jmg-2026-111894","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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